Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5646269 | Journal of Allergy and Clinical Immunology | 2017 | 15 Pages |
Abstract
Advances in basic immunology in 2016 included studies that further characterized the role of different proteins in the differentiation of effector T and B cells, including cytokines and proteins involved in the actin cytoskeleton. Regulation of granule formation and secretion in cytotoxic cells was also further described by examining patients with familial hemophagocytic lymphohistiocytosis. The role of prenylation in patients with mevalonate kinase deficiency leading to inflammation has been established. We reviewed advances in clinical immunology, as well as new approaches of whole-genome sequencing and genes newly reported to be associated with immunodeficiency, such as linker of activation of T cells (LAT); B-cell CLL/lymphoma 11B (BCL11B); RGD, leucine-rich repeat, tropomodulin domain, and proline-rich domain-containing protein (RLTPR); moesin; and Janus kinase 1 (JAK1). Trials of hematopoietic stem cell transplantation and gene therapy for primary immunodeficiency have had relative success; the use of autologous virus-specific cytotoxic T cells has proved effective as well. New medications are being explored, such as pioglitazone, which is under study for its role in enhancing the oxidative burst in patients with chronic granulomatous disease. Development of vaccines for HIV infection continues to provide insight into the immune response against a virus with an extraordinary mutation rate.
Keywords
follicular helper TCGDHSCTCVIDleukocyte function–associated antigen 1CARD9AIP1GEFCD40LTFHJAK1Janus kinase 1DOCK8HIESAPDSX-linked hyper-IgM syndromecaspase recruitment domain-containing protein 9RAG1LRBAFHLPRF1VSTLYSTTFRCMVKTMEMTAP1BCL11BUngCTLA-4OTULINLFA-1NF-κBPI3KCNVBCRNGSPIDmTORTCrHLHTHITLRILCIPSCKirS1PSCIDnatural killerROSSTATcytotoxic T-lymphocyte antigen 4Sphingosine-1-phosphateImmunologyoverall survivalWASchronic granulomatous diseaseNext-generation sequencingLysosomal trafficking regulatorWhole-exome sequencingToll-like receptorCopaDouble negativeLATrubella virusinnate lymphoid cellInduced pluripotent stem cellhyper-IgE syndromeWiskott-Aldrich syndromeGuanine exchange factornuclear factor κBphosphatase and tensin homologphosphoinositide 3-kinaseHemophagocytic lymphohistiocytosisfamilial hemophagocytic lymphohistiocytosisLinker for activation of T cellsCD40 ligandSignal transducer and activator of transcriptionDedicator of cytokinesis 8stimulator of interferon genesCopy number variantSCID, Severe combined immunodeficiencySTINGmammalian target of rapamycinTransient hypogammaglobulinemia of infancyTransmembrane proteinC-terminal extensionHematopoietic stem cell transplantationPtenRecombination-activating gene 1primary immunodeficiencyCommon variable immunodeficiencyMevalonate KinaseReactive oxygen speciestransferrin receptorkiller cell immunoglobulin-like receptorB-cell receptorT-cell receptor
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Authors
Javier MD, PhD, Yousef R. MD, Raif S. MD, Janet S. MD, Ari J. MD,